Fausto Poddie
Overview
Explore the profile of Fausto Poddie including associated specialties, affiliations and a list of published articles.
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Articles
7
Citations
367
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0
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Recent Articles
1.
Sidore C, Orru V, Cocco E, Steri M, Inshaw J, Pitzalis M, et al.
Mult Scler
. 2021 Feb;
27(9):1332-1340.
PMID: 33566725
Background: Defective alleles within the gene, encoding the pore-forming protein perforin, in combination with environmental factors, cause familial type 2 hemophagocytic lymphohistiocytosis (FHL2), a rare, severe autosomal recessive childhood disorder...
2.
Steri M, Orru V, Idda M, Pitzalis M, Pala M, Zara I, et al.
N Engl J Med
. 2017 Apr;
376(17):1615-1626.
PMID: 28445677
Background: Genomewide association studies of autoimmune diseases have mapped hundreds of susceptibility regions in the genome. However, only for a few association signals has the causal gene been identified, and...
3.
Barizzone N, Zara I, Sorosina M, Lupoli S, Porcu E, Pitzalis M, et al.
Mult Scler
. 2015 Oct;
21(11):1385-95.
PMID: 26438306
Background: Recent studies identified > 100 non-HLA (human leukocyte antigen) multiple sclerosis (MS) susceptibility variants in Northern European populations, but their role in Southern Europeans is largely unexplored. Objective: We...
4.
Francalacci P, Morelli L, Angius A, Berutti R, Reinier F, Atzeni R, et al.
Science
. 2013 Aug;
341(6145):565-9.
PMID: 23908240
Genetic variation within the male-specific portion of the Y chromosome (MSY) can clarify the origins of contemporary populations, but previous studies were hampered by partial genetic information. Population sequencing of...
5.
Fozza C, Poddie F, Contini S, Galleu A, Cottoni F, Longinotti M, et al.
Case Rep Hematol
. 2012 Sep;
2011:848461.
PMID: 22937313
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G → A mutation involving the connexin 26 gene. We...
6.
Sanna S, Pitzalis M, Zoledziewska M, Zara I, Sidore C, Murru R, et al.
Nat Genet
. 2010 May;
42(6):495-7.
PMID: 20453840
A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with...
7.
Fogu G, Maserati E, Cambosu F, Moro M, Poddie F, Soro G, et al.
Eur J Med Genet
. 2008 May;
51(4):303-14.
PMID: 18495567
We report a 12-year-old patient with Patau syndrome, in whom two cell lines were present from birth, one with total trisomy 13 due to isochromosome (13q), and one with partial...